Nettore, 2013: Overview of all reported CHOR-NKX2-1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
♀
n.a.
BRA
17
n.a.
Yes
Chorea
-Motor
Chorea
No
♀
n.a.
BRA
n.a.
n.a.
Yes
Cognitive impairment
Hypothyroidism
-Motor
Chorea
Show more (+1)
Hypothyroidism
Chorea
No
♀
n.a.
BRA
n.a.
n.a.
Yes
Hypothyroidism
-Motor
Chorea
Chorea
No
♂
n.a.
BRA
22
n.a.
Yes
-Motor
Dystonia
Chorea
Dystonia, cervical
Dystonia (any or unspecified)
Hypothyroidism
Show more (+3)
Dystonia, cervical
Hypothyroidism
Yes
♂
n.a.
BRA
n.a.
n.a.
Yes
Gait impairment
Hypothyroidism
Cerebellar signs
Delayed gross motor development
Developmental delay
-Motor
Ataxia
Chorea
Global developmental delay
Delayed fine motor development
Motor delay
Show more (+8)
Chorea
Motor delay